Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000273783
Querying Taster for transcript #2: ENST00000432569
Querying Taster for transcript #3: ENST00000444495
MT speed 0 s - this script 3.537059 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
EIF2B5disease_causing_automatic0.99999999953682simple_aae0F56Csingle base exchangers121908541show file
EIF2B5disease_causing_automatic0.99999999953682simple_aae0F56Csingle base exchangers121908541show file
EIF2B5disease_causing_automatic0.99999999953682simple_aae0F56Csingle base exchangers121908541show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999953682 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM073026)
  • known disease mutation: rs5952 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:183853340T>GN/A show variant in all transcripts   IGV
HGNC symbol EIF2B5
Ensembl transcript ID ENST00000273783
Genbank transcript ID NM_003907
UniProt peptide Q13144
alteration type single base exchange
alteration region CDS
DNA changes c.167T>G
cDNA.289T>G
g.515T>G
AA changes F56C Score: 205 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 56
frameshift no
known variant Reference ID: rs121908541
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs5952 (pathogenic for Leukoencephalopathy with vanishing white matter) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM073026)

known disease mutation at this position, please check HGMD for details (HGMD ID CM073026)
known disease mutation at this position, please check HGMD for details (HGMD ID CM073026)
regulatory features H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
POU2F2, Transcription Factor, POU2F2 Transcription Factor Binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
E2F4, Transcription Factor, E2F4 Transcription Factor Binding
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
CTCF, Transcription Factor, CCCTC-binding factor
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
CTCFL, Transcription Factor, CTCFL Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H2AK9ac, Histone, Histone 2A Lysine 9 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
E2F1, Transcription Factor, E2F1 Transcription Factor Binding
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)4.4651
4.4651
(flanking)2.1611
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 29
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      56AVLVADSFDRRFFPISKDQPRVLL
mutated  not conserved    56AVLVADSFDRRCFPIS
Ptroglodytes  all identical  ENSPTRG00000015679  56AVLVADSFDRRFFPIS
Mmulatta  all identical  ENSMMUG00000006562  56AVLVADSFDRRFFPIS
Fcatus  all identical  ENSFCAG00000007787  56AVLVADSFNRRFFPIS
Mmusculus  all identical  ENSMUSG00000003235  55AVLVADSFNRRFFPISKD
Ggallus  all identical  ENSGALG00000008376  40AVLVADSFNRRFFPISKDRPRAL
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000074995  38AVLVADSFNRRFFPITKDQPRAL
Dmelanogaster  all identical  FBgn0023512  22AVLIADNNVWNFKPLSDEGSTAL
Celegans  all identical  D2085.3  32AIVILDAFDQRFAPTHESYPCFGT
Xtropicalis  all identical  ENSXETG00000014293  65AVLVADSFNRRFYPITKDRPRAL
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2166 / 2166
position (AA) of stopcodon in wt / mu AA sequence 722 / 722
position of stopcodon in wt / mu cDNA 2288 / 2288
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 123 / 123
chromosome 3
strand 1
last intron/exon boundary 2229
theoretical NMD boundary in CDS 2056
length of CDS 2166
coding sequence (CDS) position 167
cDNA position
(for ins/del: last normal base / first normal base)		 289
gDNA position
(for ins/del: last normal base / first normal base)		 515
chromosomal position
(for ins/del: last normal base / first normal base)		 183853340
original gDNA sequence snippet CGATAGCTTCGATCGCCGCTTCTTCCCCATCTCCAAGGACC
altered gDNA sequence snippet CGATAGCTTCGATCGCCGCTGCTTCCCCATCTCCAAGGACC
original cDNA sequence snippet CGATAGCTTCGATCGCCGCTTCTTCCCCATCTCCAAGGACC
altered cDNA sequence snippet CGATAGCTTCGATCGCCGCTGCTTCCCCATCTCCAAGGACC
wildtype AA sequence MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRFFPIS
KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLLKSK WCRPTSLNVV
RIITSELYRS LGDVLRDVDA KALVRSDFLL VYGDVISNIN ITRALEEHRL RRKLEKNVSV
MTMIFKESSP SHPTRCHEDN VVVAVDSTTN RVLHFQKTQG LRRFAFPLSL FQGSSDGVEV
RYDLLDCHIS ICSPQVAQLF TDNFDYQTRD DFVRGLLVNE EILGNQIHMH VTAKEYGARV
SNLHMYSAVC ADVIRRWVYP LTPEANFTDS TTQSCTHSRH NIYRGPEVSL GHGSILEENV
LLGSGTVIGS NCFITNSVIG PGCHIGDNVV LDQTYLWQGV RVAAGAQIHQ SLLCDNAEVK
ERVTLKPRSV LTSQVVVGPN ITLPEGSVIS LHPPDAEEDE DDGEFSDDSG ADQEKDKVKM
KGYNPAEVGA AGKGYLWKAA GMNMEEEEEL QQNLWGLKIN MEEESESESE QSMDSEEPDS
RGGSPQMDDI KVFQNEVLGT LQRGKEENIS CDNLVLEINS LKYAYNISLK EVMQVLSHVV
LEFPLQQMDS PLDSSRYCAL LLPLLKAWSP VFRNYIKRAA DHLEALAAIE DFFLEHEALG
ISMAKVLMAF YQLEILAEET ILSWFSQRDT TDKGQQLRKN QQLQRFIQWL KEAEEESSED
D*
mutated AA sequence MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRCFPIS
KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLLKSK WCRPTSLNVV
RIITSELYRS LGDVLRDVDA KALVRSDFLL VYGDVISNIN ITRALEEHRL RRKLEKNVSV
MTMIFKESSP SHPTRCHEDN VVVAVDSTTN RVLHFQKTQG LRRFAFPLSL FQGSSDGVEV
RYDLLDCHIS ICSPQVAQLF TDNFDYQTRD DFVRGLLVNE EILGNQIHMH VTAKEYGARV
SNLHMYSAVC ADVIRRWVYP LTPEANFTDS TTQSCTHSRH NIYRGPEVSL GHGSILEENV
LLGSGTVIGS NCFITNSVIG PGCHIGDNVV LDQTYLWQGV RVAAGAQIHQ SLLCDNAEVK
ERVTLKPRSV LTSQVVVGPN ITLPEGSVIS LHPPDAEEDE DDGEFSDDSG ADQEKDKVKM
KGYNPAEVGA AGKGYLWKAA GMNMEEEEEL QQNLWGLKIN MEEESESESE QSMDSEEPDS
RGGSPQMDDI KVFQNEVLGT LQRGKEENIS CDNLVLEINS LKYAYNISLK EVMQVLSHVV
LEFPLQQMDS PLDSSRYCAL LLPLLKAWSP VFRNYIKRAA DHLEALAAIE DFFLEHEALG
ISMAKVLMAF YQLEILAEET ILSWFSQRDT TDKGQQLRKN QQLQRFIQWL KEAEEESSED
D*
speed 0.61 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999953682 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM073026)
  • known disease mutation: rs5952 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:183853340T>GN/A show variant in all transcripts   IGV
HGNC symbol EIF2B5
Ensembl transcript ID ENST00000432569
Genbank transcript ID N/A
UniProt peptide Q13144
alteration type single base exchange
alteration region CDS
DNA changes c.167T>G
cDNA.188T>G
g.515T>G
AA changes F56C Score: 205 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 56
frameshift no
known variant Reference ID: rs121908541
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs5952 (pathogenic for Leukoencephalopathy with vanishing white matter) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM073026)

known disease mutation at this position, please check HGMD for details (HGMD ID CM073026)
known disease mutation at this position, please check HGMD for details (HGMD ID CM073026)
regulatory features H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
POU2F2, Transcription Factor, POU2F2 Transcription Factor Binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
E2F4, Transcription Factor, E2F4 Transcription Factor Binding
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
CTCF, Transcription Factor, CCCTC-binding factor
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
CTCFL, Transcription Factor, CTCFL Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H2AK9ac, Histone, Histone 2A Lysine 9 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
E2F1, Transcription Factor, E2F1 Transcription Factor Binding
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)4.4651
4.4651
(flanking)2.1611
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 29
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      56AVLVADSFDRRFFPISKDQPRVLL
mutated  not conserved    56AVLVADSFDRRCFPIS
Ptroglodytes  all identical  ENSPTRG00000015679  56AVLVADSFDRRFFPIS
Mmulatta  all identical  ENSMMUG00000006562  56AVLVADSFDRRFFPIS
Fcatus  all identical  ENSFCAG00000007787  56AVLVADSFNRRFFPIS
Mmusculus  all identical  ENSMUSG00000003235  55AVLVADSFNRRFFPISKD
Ggallus  all identical  ENSGALG00000008376  40AVLVADSFNRRFFPISKDRPRAL
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000074995  38AVLVADSFNRRFFPITKDQPRAL
Dmelanogaster  all identical  FBgn0023512  22AVLIADNNVWNFKPLSDEGSTAL
Celegans  all identical  D2085.3  32AIVILDAFDQRFAPTHESYPCFGT
Xtropicalis  all identical  ENSXETG00000014293  65AVLVADSFNRRFYPITKDRPRAL
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 324 / 324
position (AA) of stopcodon in wt / mu AA sequence 108 / 108
position of stopcodon in wt / mu cDNA 345 / 345
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 22 / 22
chromosome 3
strand 1
last intron/exon boundary 217
theoretical NMD boundary in CDS 145
length of CDS 324
coding sequence (CDS) position 167
cDNA position
(for ins/del: last normal base / first normal base)		 188
gDNA position
(for ins/del: last normal base / first normal base)		 515
chromosomal position
(for ins/del: last normal base / first normal base)		 183853340
original gDNA sequence snippet CGATAGCTTCGATCGCCGCTTCTTCCCCATCTCCAAGGACC
altered gDNA sequence snippet CGATAGCTTCGATCGCCGCTGCTTCCCCATCTCCAAGGACC
original cDNA sequence snippet CGATAGCTTCGATCGCCGCTTCTTCCCCATCTCCAAGGACC
altered cDNA sequence snippet CGATAGCTTCGATCGCCGCTGCTTCCCCATCTCCAAGGACC
wildtype AA sequence MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRFFPIS
KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLL*
mutated AA sequence MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRCFPIS
KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLL*
speed 0.65 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999953682 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM073026)
  • known disease mutation: rs5952 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:183853340T>GN/A show variant in all transcripts   IGV
HGNC symbol EIF2B5
Ensembl transcript ID ENST00000444495
Genbank transcript ID N/A
UniProt peptide Q13144
alteration type single base exchange
alteration region CDS
DNA changes c.167T>G
cDNA.177T>G
g.515T>G
AA changes F56C Score: 205 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 56
frameshift no
known variant Reference ID: rs121908541
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs5952 (pathogenic for Leukoencephalopathy with vanishing white matter) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM073026)

known disease mutation at this position, please check HGMD for details (HGMD ID CM073026)
known disease mutation at this position, please check HGMD for details (HGMD ID CM073026)
regulatory features H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
POU2F2, Transcription Factor, POU2F2 Transcription Factor Binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
H2AZ, Histone, Histone 2A variant Z
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
E2F4, Transcription Factor, E2F4 Transcription Factor Binding
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
CTCF, Transcription Factor, CCCTC-binding factor
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
CTCFL, Transcription Factor, CTCFL Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H2AK9ac, Histone, Histone 2A Lysine 9 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
E2F1, Transcription Factor, E2F1 Transcription Factor Binding
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)4.4651
4.4651
(flanking)2.1611
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 29
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      56AVLVADSFDRRFFPISKDQPRVLL
mutated  not conserved    56AVLVADSFDRRCFPIS
Ptroglodytes  all identical  ENSPTRG00000015679  56AVLVADSFDRRFFPIS
Mmulatta  all identical  ENSMMUG00000006562  56AVLVADSFDRRFFPIS
Fcatus  all identical  ENSFCAG00000007787  56AVLVADSFNRRFFPIS
Mmusculus  all identical  ENSMUSG00000003235  55AVLVADSFNRRFFPISKD
Ggallus  all identical  ENSGALG00000008376  40AVLVADSFNRRFFPISKDRPRAL
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000074995  38AVLVADSFNRRFFPITKDQPRAL
Dmelanogaster  all identical  FBgn0023512  22AVLIADNNVWNFKPLSDEGSTAL
Celegans  all identical  D2085.3  32AIVILDAFDQRFAPTHESYPCFGT
Xtropicalis  all identical  ENSXETG00000014293  65AVLVADSFNRRFYPITKDRPRAL
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2118 / 2118
position (AA) of stopcodon in wt / mu AA sequence 706 / 706
position of stopcodon in wt / mu cDNA 2128 / 2128
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 11 / 11
chromosome 3
strand 1
last intron/exon boundary 2117
theoretical NMD boundary in CDS 2056
length of CDS 2118
coding sequence (CDS) position 167
cDNA position
(for ins/del: last normal base / first normal base)		 177
gDNA position
(for ins/del: last normal base / first normal base)		 515
chromosomal position
(for ins/del: last normal base / first normal base)		 183853340
original gDNA sequence snippet CGATAGCTTCGATCGCCGCTTCTTCCCCATCTCCAAGGACC
altered gDNA sequence snippet CGATAGCTTCGATCGCCGCTGCTTCCCCATCTCCAAGGACC
original cDNA sequence snippet CGATAGCTTCGATCGCCGCTTCTTCCCCATCTCCAAGGACC
altered cDNA sequence snippet CGATAGCTTCGATCGCCGCTGCTTCCCCATCTCCAAGGACC
wildtype AA sequence MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRFFPIS
KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLLKSK WCRPTSLNVV
RIITSELYRS LGDVLRDVDA KALVRSDFLL VYGDVISNIN ITRALEEHRL RRKLEKNVSV
MTMIFKESSP SHPTRCHEDN VVVAVDSTTN RVLHFQKTQG LRRFAFPLSL FQGSSDGVEV
RYDLLDCHIS ICSPQVAQLF TDNFDYQTRD DFVRGLLVNE EILGNQIHMH VTAKEYGARV
SNLHMYSAVC ADVIRRWVYP LTPEANFTDS TTQSCTHSRH NIYRGPEVSL GHGSILEENV
LLGSGTVIGS NCFITNSVIG PGCHIGDNVV LDQTYLWQGV RVAAGAQIHQ SLLCDNAEVK
ERVTLKPRSV LTSQVVVGPN ITLPEGSVIS LHPPDAEEDE DDGEFSDDSG ADQEKDKVKM
KGYNPAEVGA AGKGYLWKAA GMNMEEEEEL QQNLWGLKIN MEEESESESE QSMDSEEPDS
RGGSPQMDDI KVFQNEVLGT LQRGKEENIS CDNLVLEINS LKYAYNISLK EVMQVLSHVV
LEFPLQQMDS PLDSSRYCAL LLPLLKAWSP VFRNYIKRAA DHLEALAAIE DFFLEHEALG
ISMAKVLMAF YQLEILAEET ILSWFSQRDT TDKGQQLRKN QQVVC*
mutated AA sequence MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRCFPIS
KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLLKSK WCRPTSLNVV
RIITSELYRS LGDVLRDVDA KALVRSDFLL VYGDVISNIN ITRALEEHRL RRKLEKNVSV
MTMIFKESSP SHPTRCHEDN VVVAVDSTTN RVLHFQKTQG LRRFAFPLSL FQGSSDGVEV
RYDLLDCHIS ICSPQVAQLF TDNFDYQTRD DFVRGLLVNE EILGNQIHMH VTAKEYGARV
SNLHMYSAVC ADVIRRWVYP LTPEANFTDS TTQSCTHSRH NIYRGPEVSL GHGSILEENV
LLGSGTVIGS NCFITNSVIG PGCHIGDNVV LDQTYLWQGV RVAAGAQIHQ SLLCDNAEVK
ERVTLKPRSV LTSQVVVGPN ITLPEGSVIS LHPPDAEEDE DDGEFSDDSG ADQEKDKVKM
KGYNPAEVGA AGKGYLWKAA GMNMEEEEEL QQNLWGLKIN MEEESESESE QSMDSEEPDS
RGGSPQMDDI KVFQNEVLGT LQRGKEENIS CDNLVLEINS LKYAYNISLK EVMQVLSHVV
LEFPLQQMDS PLDSSRYCAL LLPLLKAWSP VFRNYIKRAA DHLEALAAIE DFFLEHEALG
ISMAKVLMAF YQLEILAEET ILSWFSQRDT TDKGQQLRKN QQVVC*
speed 0.85 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

Problems